Pelizaeus-Merzbacher disease. Contribution of magnetic resonance imaging to an early diagnosis.
The lesions of the cerebral white matter which characterize Pelizaeus-Merzbacher disease are classically observed at pathological examination. An early diagnosis can now be obtained by magnetic resonance imaging (MRI). In an eutrophic first son born at term, stridor, nystagmus-like eye movements and axial hypotonia were noted immediately after birth and pyramidal signs appeared at 2 months, the only extra-clinical finding at that age being prolonged latencies of evoked visual potentials. An MRI exploration, performed at 3 months, showed that compared with the grey matter the white matter emitted a low-intensity signal on the T1-weighted sequence and a high-intensity signal on the T2-weighted sequence (signal inversion), such diffuse and symmetrical MRI abnormalities being typical of dysmyelination. When combined with suggestive clinical signs, these abnormalities confirm the diagnosis of Pelizaeus-Merzbacher disease, even in the absence of a familial history, and make it possible to warn the parents of the poor prognosis and the risk of recurrence among future sons.
André
M
M
Service de Médecine Néonatale, Maternité Universitaire, Nancy.
Monin
P
P
Moret
C
C
Braun
M
M
Picard
L
L
D001921:Brain / Q000473:pathology; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000175:diagnosis*; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male